RB1
MCID: RTN024
MIFTS: 72

Retinoblastoma (RB1)

Categories: Cancer diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinoblastoma

MalaCards integrated aliases for Retinoblastoma:

Name: Retinoblastoma 57 12 73 25 20 43 58 36 29 13 54 6 15 39 17 70
Rb 57 12 20 43 72
Retinoblastoma, Trilateral 57 29 6
Trilateral Retinoblastoma 12 15 70
Childhood Cancer Retinoblastoma 72
Non-Hereditary Retinoblastoma 58
Malignant Neoplasm of Retina 70
Eye Cancer, Retinoblastoma 20
Hereditary Retinoblastoma 58
Neuroblastoma of Retina 12
Rb - Retinoblastoma 12
Retinal Neoplasms 70
Glioma, Retinal 43
Retinal Cancer 20
Retinal Tumor 20
Rb1 57

Characteristics:

Orphanet epidemiological data:

58
retinoblastoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Europe),1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy; Age of death: any age;
non-hereditary retinoblastoma
Inheritance: Not applicable; Age of onset: Infancy,Neonatal; Age of death: any age;
hereditary retinoblastoma
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
incidence 1 in 15,000-28,000 births
approximately 40% of cases are inherited or new germline mutations
approximately 60% of cases are due to somatic mutations and are unilateral


HPO:

31

GeneReviews:

25
Penetrance See genotype-phenotype correlations.

Classifications:

Orphanet: 58  
Rare eye diseases


Summaries for Retinoblastoma

MedlinePlus Genetics : 43 Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.In children with retinoblastoma, the disease often affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called "cat's eye reflex" or leukocoria. This unusual whiteness is particularly noticeable in dim light or in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus), which can cause squinting; a change in the color of the colored part of the eye (iris); redness, soreness, or swelling of the eyelids; and blindness or poor vision in the affected eye or eyes.Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening.When retinoblastoma is associated with a genetic change (mutation) that occurs in all of the body's cells, it is known as hereditary (or germinal) retinoblastoma. People with this form of retinoblastoma typically develop cancer in both eyes and also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pineoblastoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues (such as muscle) called soft tissue sarcomas, and an aggressive form of skin cancer called melanoma.

MalaCards based summary : Retinoblastoma, also known as rb, is related to bilateral retinoblastoma and unilateral retinoblastoma. An important gene associated with Retinoblastoma is RB1 (RB Transcriptional Corepressor 1), and among its related pathways/superpathways are Cell cycle and Mitotic G1-G1/S phases. The drugs Nicotine and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include eye, breast and retina, and related phenotypes are retinoblastoma and strabismus

Disease Ontology : 12 A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives from the tissues of the retina.

GARD : 20 Retinoblastoma (RB) is a rare type of eye cancer in the retina that typically develops before the age of 5. It usually affects only one eye, but 1/3 of children with RB develop cancer in both eyes. The first sign is typically a visible whiteness in the pupil called "cat's eye reflex" or leukocoria, which is particularly noticeable in photographs taken with a flash. Other signs and symptoms include strabismus ; persistent eye pain, redness or irritation; and blindness or poor vision in the affected eye(s). Retinoblastoma is caused by mutations in the RB1 gene. In about 60% of people with retinoblastoma, mutations are not inherited and occur only in retinal cells. In the other 40% of individuals, mutations are inherited from a parent in an autosomal dominant pattern and can be found in all body cells. Retinoblastoma that is caused by an inherited mutation is called hereditary retinoblastoma. Hereditary retinoblastoma usually occurs at a younger age than retinoblastoma that is not inherited (15 months vs. 24 months). Retinoblastoma that occurs in only one eye is usually not inherited. Retinoblastoma that occurs in both eyes is thought to be inherited.

OMIM® : 57 Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (189971) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000). (180200) (Updated 05-Apr-2021)

KEGG : 36 The retinoblastoma is an eye tumor of childhood that arises in the retina and represents the most common intraocular malignancy of infancy and childhood. Tumor formation usually begins with mutation in both alleles of the retinoblastoma tumor suppressor gene RB1, followed by a series of other genetic alterations that correlate with the clinical stage and pathologic findings of the tumor. In retinoblastoma, mutation of RB1 leads to dysfunction or absence of the Rb protein. These mutations promote tumour development by deregulating the E2F family of transcription factors leading to uncontrolled cell cycle progression.

UniProtKB/Swiss-Prot : 72 Childhood cancer retinoblastoma: Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated.

Wikipedia : 73 Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina,... more...

GeneReviews: NBK1452

Related Diseases for Retinoblastoma

Diseases in the Retinoblastoma family:

Familial Retinoblastoma

Diseases related to Retinoblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 877)
# Related Disease Score Top Affiliating Genes
1 bilateral retinoblastoma 33.1 RBL2 RBL1 RB1 MYCN
2 unilateral retinoblastoma 33.1 RBL2 RBL1 RB1 MYCN
3 familial retinoblastoma 32.7 RBL1 RB1
4 ocular cancer 32.3 RBL2 RBL1 RB1 E2F1
5 retinal cancer 32.3 RBL2 RBL1 RB1 MYCN E2F1
6 small cell cancer of the lung 31.8 RB1 MALAT1 HOTAIR
7 nervous system cancer 31.8 RBL1 RB1 MYCN MIR34A
8 cervical cancer 31.5 RB1 MIR34A MEG3 MALAT1 HOTAIR CCAT1
9 osteogenic sarcoma 31.2 RBL2 RB1 MEG3 MALAT1 HOTAIR E2F1
10 melanoma 31.2 RB1 MIRLET7E MIR34A MEG3 MALAT1 HOTAIR
11 papilloma 30.9 RBL2 RBL1 RB1
12 medulloblastoma 30.7 RB1 PRDM2 MYCN MIR34A HOTAIR CCAT1
13 glioblastoma 30.6 RB1 MYCN MIR34A MEG3 MALAT1 HOTAIR
14 glioma 30.6 MIR34A MEG3 MALAT1 HOTAIR CCAT1
15 bladder cancer 30.5 RB1 MIR34A MEG3 MALAT1 HOTAIR E2F1
16 lung cancer susceptibility 3 30.3 RB1 MEG3 MALAT1 HOTAIR CCAT1
17 esophageal cancer 30.0 RB1 MIR34A MEG3 MALAT1 HOTAIR CCAT1
18 gallbladder cancer 30.0 MEG3 MALAT1 HOTAIR CCAT1
19 leukemia, acute myeloid 29.9 MYCN MIRLET7E MIR34A MEG3 MALAT1 HOTAIR
20 high grade glioma 29.9 MEG3 MALAT1 HOTAIR CCAT1
21 nasopharyngeal carcinoma 29.9 MIR129-1 MEG3 MALAT1 HOTAIR CCAT1
22 myeloma, multiple 29.9 MIRLET7E MEG3 MALAT1 HOTAIR CCAT1
23 thyroid cancer, nonmedullary, 1 29.9 MEG3 MALAT1 HOTAIR BANCR
24 pituitary adenoma 29.9 MIRLET7E MEG3 MALAT1 HOTAIR
25 laryngeal squamous cell carcinoma 29.8 MIR34A MALAT1 HOTAIR CCAT1
26 gastric cancer 29.8 RB1 PRDM2 MIR34A MIR129-1 MEG3 MALAT1
27 bladder urothelial carcinoma 29.8 MEG3 MALAT1 HOTAIR
28 ovarian epithelial cancer 29.6 MEG3 MALAT1 HOTAIR CCAT1
29 squamous cell carcinoma, head and neck 29.4 RB1 MIRLET7E MIR498 MIR494 HOTAIR
30 oral squamous cell carcinoma 29.4 MIRLET7E MIR34A MEG3 MALAT1 HOTAIR CCAT1
31 ovarian cancer 29.1 RB1 MIRLET7E MIR498 MIR494 MIR34A MEG3
32 lung cancer 29.1 RB1 MYCN MIRLET7E MIR513A1 MIR503 MIR34A
33 hepatocellular carcinoma 28.7 RB1 PRDM2 MIRLET7E MIR503 MIR34A MIR129-1
34 intraocular retinoblastoma 11.5
35 extraocular retinoblastoma 11.4
36 pediatric intraocular retinoblastoma 11.3
37 pediatric extraocular retinoblastoma 11.3
38 tongue carcinoma 11.0
39 hypotrichosis 11.0
40 chromosome 13q14 deletion syndrome 10.9
41 chromophobe renal cell carcinoma 10.9
42 imprinting gene related to retinoblastoma 10.9
43 penile cancer 10.9
44 retinal disease 10.9
45 embryoma 10.9
46 immunodeficiency 30 10.9
47 desmoid tumor 10.9
48 gliosarcoma 10.9
49 gliomatosis cerebri 10.9
50 autism 3 10.9

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to Retinoblastoma

Symptoms & Phenotypes for Retinoblastoma

Human phenotypes related to Retinoblastoma:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinoblastoma 58 31 obligate (100%) Obligate (100%) HP:0009919
2 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
3 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
4 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
5 leukocoria 58 31 frequent (33%) Frequent (79-30%) HP:0000555
6 hypopyon 58 31 frequent (33%) Frequent (79-30%) HP:0031615
7 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
8 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
9 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
10 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
11 leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001909
12 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
13 osteosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002669
14 rhabdomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002859
15 reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007663
16 retinal calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0007862
17 vitreous hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0007902
18 hyphema 58 31 occasional (7.5%) Occasional (29-5%) HP:0011886
19 subretinal pigment epithelium hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0025244
20 red eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0025337
21 leiomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100243
22 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
23 vitritis 31 occasional (7.5%) HP:0011531
24 cleft palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000175
25 glioma 58 31 very rare (1%) Very rare (<4-1%) HP:0009733
26 ewing sarcoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012254
27 pineoblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0030408
28 abnormal eye morphology 58 Occasional (29-5%)
29 pinealoma 31 HP:0010799

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
leukocoria
retinal calcification
retinoblastoma (25% bilateral, 15% unilateral)
retinomas (translucent, grayish retinal mass protruding into the vitreous)
retinal pigment epithelial migration and proliferation
more
Head And Neck Mouth:
cleft palate (rare)

Neoplasia:
leukemia
lymphoma
ewing sarcoma
osteogenic sarcoma
pinealoma (trilateral retinoblastoma)

Clinical features from OMIM®:

180200 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinoblastoma

Drugs for Retinoblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 4 54-11-5 942 89594
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
5
Molgramostim Investigational Phase 4 99283-10-0
6 Antifungal Agents Phase 4
7 Cytochrome P-450 CYP3A Inhibitors Phase 4
8
Hydroxyitraconazole Phase 4 108222
9 Cytochrome P-450 Enzyme Inhibitors Phase 4
10 Hormone Antagonists Phase 4
11 Hormones Phase 4
12
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
13
Lenograstim Approved, Investigational Phase 3 135968-09-1
14
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
15 Anti-Infective Agents, Local Phase 3
16 Antibiotics, Antitubercular Phase 3
17
Liposomal doxorubicin Phase 3 31703
18 Anti-Bacterial Agents Phase 3
19 Keratolytic Agents Phase 3
20 Podophyllotoxin Phase 3 518-28-5
21 Immunologic Factors Phase 3
22 Adjuvants, Immunologic Phase 3
23
Ranibizumab Approved Phase 2 347396-82-1 459903
24
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
25
Palbociclib Approved, Investigational Phase 2 571190-30-2 5005498 5330286 11431660
26
Arsenic trioxide Approved, Investigational Phase 2 1327-53-3 518740
27
Iodine Approved, Investigational Phase 2 7553-56-2 807
28
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
29
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
30
Acetaminophen Approved Phase 2 103-90-2 1983
31
Promethazine Approved, Investigational Phase 2 60-87-7 4927
32
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
33
Melphalan Approved Phase 2 148-82-3 4053 460612
34
Cadexomer iodine Experimental Phase 2 94820-09-4
35 topoisomerase I inhibitors Phase 2
36 Protein Kinase Inhibitors Phase 2
37 3-Iodobenzylguanidine Phase 2
38 Immunoglobulins Phase 2
39 Antibodies Phase 2
40 Antibodies, Monoclonal Phase 2
41 Cyclosporins Phase 2
42 Calcineurin Inhibitors Phase 2
43
Neomycin Approved, Vet_approved Phase 1 1404-04-2 8378
44
Polymyxin B Approved, Vet_approved Phase 1 1404-26-8
45
Simvastatin Approved Phase 1 79902-63-9 54454
46
Sirolimus Approved, Investigational Phase 1 53123-88-9 6436030 5284616
47
Thalidomide Approved, Investigational, Withdrawn Phase 1 50-35-1 5426
48
Mesna Approved, Investigational Phase 1 3375-50-6 598
49
Busulfan Approved, Investigational Phase 1 55-98-1 2478
50
Amifostine Approved, Investigational Phase 1 20537-88-6 2141

Interventional clinical trials:

(show top 50) (show all 108)
# Name Status NCT ID Phase Drugs
1 G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor: a Prospective, Multicentre, Randomised Controlled Trial Unknown status NCT02933333 Phase 4
2 CEV With/Without Periocular Carboplatin Chemotherapy for Nonmetastatic Extraocular Retinoblastoma Carboplatin--A Single Center, Retrospective Study to Evaluate the Efficacy of Carboplatin in Subjects With Retinoblastoma Completed NCT02319486 Phase 4 carboplatin periocular injection;CEV chemotherapy
3 Clinical Study to Evaluate the Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation for Pediatric Solid Tumors Completed NCT00336531 Phase 4 itraconazole
4 Carboplatin Periocular Injection in the Treatment for Retinoblastoma--A Single Center, Randomized Study to Evaluate the Efficacy of Carboplatin in Subjects With Retinoblastoma Unknown status NCT02137928 Phase 3 carboplatin periocular injection;chemotherapy
5 A Study of Unilateral Retinoblastoma With and Without Histopathologic High-Risk Features and the Role of Adjuvant Chemotherapy Completed NCT00335738 Phase 3 liposomal vincristine sulfate;carboplatin;etoposide
6 Trial of Systemic Neoadjuvant Chemotherapy for Group B Intraocular Retinoblastoma Completed NCT00079417 Phase 3 carboplatin;vincristine sulfate
7 Choice of Topotecan or Melphalan in Retinoblastoma Patients Recruiting NCT04799002 Phase 3 Topotecan;Melphalan
8 Ocular Conservative Treatment for Retinoblastoma: Efficacy of the New Management Strategies and Visual Outcome - RETINO 2018 Recruiting NCT04681417 Phase 2, Phase 3 Melphalan or Melphalan + Topotecan;etoposide, carboplatin and vincristine;Carboplatin administered on Day 1;Intravitreal Melphalan chemotherapy injections (local treatment)
9 GALOP II Protocol for the Treatment of Unilateral Retinoblastoma Recruiting NCT03475121 Phase 3
10 Protocol for the Study and Treatment of Patients With Intraocular Retinoblastoma Active, not recruiting NCT00186888 Phase 3 Vincristine, Carboplatin;Vincristine and Topotecan;Vincristine + Carboplatin + Etoposide;vincristine, cyclophosphamide, and doxorubicin;Vincristine, Carboplatin and Etoposide
11 Three Cycles Versus Six Cycles of Adjuvant Chemotherapy for the Patients With High-risk Retinoblastoma After Enucleation: Prospective Randomized Control Study Active, not recruiting NCT01906814 Phase 3 3 cycles chemotherapy;6 cycles chemotherapy
12 A Trial of Intensive Multi-Modality Therapy for Extra-Ocular Retinoblastoma Active, not recruiting NCT00554788 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Thiotepa;Vincristine Sulfate
13 A Single Arm Trial of Systemic And Subtenon Chemotherapy For Groups C And D Intraocular Retinoblastoma Terminated NCT00072384 Phase 3 liposomal vincristine sulfate;carboplatin;etoposide
14 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Terminated NCT01987596 Phase 3
15 Lucentis in the Treatment of Retinoblastoma - A Phase II, Single Center, Randomized Study to Evaluate the Efficacy of Ranibizumab in Subjects With Retinoblastoma Unknown status NCT01899066 Phase 2 Lucentis, chemotherapy;chemotherapy
16 Phase 1-2 Study of Injection of Melphalan Into the Ophthalmic Artery in Children With Retinoblastoma Unknown status NCT00906113 Phase 1, Phase 2 Intra-arterial injection of melphalan;Injection of melphalan into the ophthalmic artery
17 Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma Completed NCT00901238 Phase 1, Phase 2
18 Chemotherapy Plus Local Surgical Treatment in Children With Intraocular Germ-Line Retinoblastoma Completed NCT00179920 Phase 2 Carboplatin;VP-16
19 Treatment for Extrachoroidal or Metastatic Retinoblastoma Completed NCT00004006 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride
20 A TRIAL OF ADJUVANT CHEMOTHERAPY IN PATIENTS WITH INTRAOCULAR RETINOBLASTOMA Completed NCT00002675 Phase 2 carboplatin;cisplatin;cyclophosphamide;etoposide;mesna;vincristine sulfate
21 Evaluation of Chemotherapy as Initial Treatment for Retinoblastoma Completed NCT00002794 Phase 2 carboplatin;vincristine sulfate
22 A Phase II Clinical Trail of the Cyclin Dependent Kinase (CDK)4/6 Inhibitor, PD0332991 in Previously Treated, Advanced NSCLC Patients With Wildtype Retinoblastoma Protein (RB) and Inactive Cyclin Dependent Kinase (CDK)N2a Completed NCT01291017 Phase 2 PD0332991
23 Phase II Study of Arsenic Trioxide in Neuroblastoma and Other Pediatric Solid Tumors Completed NCT00024258 Phase 2 arsenic trioxide
24 High-Dose Thiotepa With Autologous Stem Cell Rescue in Patients With Malignancies Refractory to Conventional Chemotherapy Completed NCT00003173 Phase 2 thiotepa
25 Myeloablative Chemotherapy With Bone Marrow Rescue For Rare Poor-Prognosis Cancers Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
26 A Phase II Trial of Rebeccamycin Analogue (NSC #655649) in Children With Solid Tumors Completed NCT00006102 Phase 2 becatecarin
27 A Phase II Study of IMC-A12 (Anti-IGF-I Receptor Monoclonal Antibody, NSC #742460) in Children With Relapsed/Refractory Solid Tumors Completed NCT00831844 Phase 2
28 Adjuvant Treatment in Extensive Unilateral Retinoblastoma Primary Enucleated Recruiting NCT02870907 Phase 2 Etoposide;Vincristine;Carboplatin;Vincristine;Cyclophosphamide;Carboplatin;Etoposide;Carboplatin;Thiotepa;Vincristine;Cyclophosphamide;Carboplatin;Etoposide;Thiotepa
29 Conservative Treatments of Retinoblastoma Recruiting NCT02866136 Phase 2 VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
30 Protocol for the Study and Treatment of Participants With Intraocular Retinoblastoma Recruiting NCT01783535 Phase 2 vincristine;topotecan;filgrastim;PEG-filgrastim;carboplatin;etoposide;cyclophosphamide;MESNA;doxorubicin
31 Targeted Therapy With CDK4/6 Inhibitors in Chemo-Refractory, Rb Wild-Type Extensive Small Cell Lung Cancer (SCLC), An Open Label Phase 2 Trial Recruiting NCT04010357 Phase 2 Abemaciclib,
32 A Phase 2 Study of Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer Recruiting NCT03130439 Phase 2 Abemaciclib
33 Multicenter Phase II Study for International Intraocular Retinoblastoma Classification Groups B, C & D Tumors Treated With Carboplatin-Etoposide-Vincristine-Cyclosporine-Focal Therapy Multimodality Protocol (OCRN Multicenter RB 2003) Active, not recruiting NCT00110110 Phase 2 Carboplatin;Cyclosporine;Etoposide;vincristine sulfate
34 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
35 A Phase II Prospective International Multicenter Clinical Trial for Eyes With Relapsed Retinoblastoma, With Randomization Depending on the Site of Relapse or on Previous Treatment Not yet recruiting NCT04455139 Phase 2 Topotecan;Melphalan
36 Phase II Study Temozolomide for Retinoblastoma Metastatic to the Central Nervous System for Patients From Guatemala Terminated NCT01857752 Phase 2 Temozolomide
37 A Phase II Trial of Proton Beam Radiation Therapy for Intra- and Periocular Retinoblastoma Terminated NCT00432445 Phase 2
38 An Open, Single-centre Non-randomized Phase II Clinical Trial on Intra-arterial Chemotherapy With Melphalan for the Treatment of Retinoblastoma (RTB) in Advanced Intraocular Stage Terminated NCT01393769 Phase 2 Melphalan
39 Intra-arterial Chemotherapy for the Treatment of Intraocular Retinoblastoma Terminated NCT01293539 Phase 2 Melphalan hydrochloride
40 Intra-arterial Chemotherapy for Advanced Intraocular Retinoblastoma Withdrawn NCT01151748 Phase 2
41 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa, Etoposide and Carboplatin) and Autologous Stem Cell Rescue Withdrawn NCT00003273 Phase 2 carboplatin;cisplatin;cyclophosphamide;etoposide;leucovorin calcium;methotrexate;temozolomide;thiotepa;vincristine sulfate
42 Phase I Dose-Escalation Study of Seneca Valley Virus (SVV-001), a Replication-Competent Picornavirus, in Patients With Advanced Solid Tumors With Neuroendocrine Features Unknown status NCT00314925 Phase 1 Seneca Valley Virus (biological agent)
43 Phase I Study of Intrathecal 131-I-3F8 Monoclonal Antibody in Patients With GD2 Positive Leptomeningeal Neoplasms Completed NCT00003022 Phase 1
44 Toxicity and Activity of Periocular Topotecan in Children With Retinoblastoma Completed NCT00460876 Phase 1 Topotecan
45 Intravitreal Carboplatin for the Treatment of Participants With Recurrent or Refractory Intraocular Retinoblastoma Completed NCT02792036 Phase 1 Carboplatin;Maxitrol®
46 A Phase 1 Study Using Simvastatin in Combination With Topotecan and Cyclophosphamide in Relapsed and/or Refractory Pediatric Solid and CNS Tumors Completed NCT02390843 Phase 1 Simvastatin;Cyclophosphamide;Topotecan;Myeloid growth factor
47 Phase I Study of Intrathecal Spartaject-Busulfan in Children With Neoplastic Meningitis Completed NCT00006246 Phase 1 busulfan
48 High Dose Carboplatin Combined With Oral VP-16 In The Treatment Of Pediatric CNS Malignancies Completed NCT00053118 Phase 1 carboplatin;etoposide
49 A PHASE I STUDY OF FLAVOPIRIDOL (NSC# 649890; IND# 46211) IN PATIENTS WITH RELAPSED OR REFRACTORY PEDIATRIC SOLID TUMORS OR LYMPHOMAS Completed NCT00012181 Phase 1 alvocidib
50 A Phase 1 Dose Escalation Study of Seneca Valley Virus (NTX-010), A Replication-Competent Picornavirus, in Relapsed/Refractory Pediatric Patients With Neuroblastoma, Rhabdomyosarcoma, or Rare Tumors With Neuroendocrine Features Completed NCT01048892 Phase 1 cyclophosphamide

Search NIH Clinical Center for Retinoblastoma

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Cyclophosphamide

Genetic Tests for Retinoblastoma

Genetic tests related to Retinoblastoma:

# Genetic test Affiliating Genes
1 Retinoblastoma, Trilateral 29
2 Retinoblastoma 29 RB1

Anatomical Context for Retinoblastoma

MalaCards organs/tissues related to Retinoblastoma:

40
Eye, Breast, Retina, Lung, Prostate, Smooth Muscle, Thyroid

Publications for Retinoblastoma

Articles related to Retinoblastoma:

(show top 50) (show all 16450)
# Title Authors PMID Year
1
Detection of mosaic RB1 mutations in families with retinoblastoma. 54 61 6 25 57
19280657 2009
2
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 6 57 25 54 61
12541220 2003
3
RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 61 57 6 25
24688104 2014
4
Genotype-phenotype correlations in hereditary familial retinoblastoma. 6 57 25 61
17096365 2007
5
A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene. 57 6 25 61
12016586 2002
6
Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function. 25 57 6 61
9342358 1997
7
Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. 54 61 6 57
1881452 1991
8
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 57 6 61
16463005 2006
9
Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression. 6 61 25 54
16127685 2005
10
Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications. 61 57 6
11317357 2001
11
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. 57 6 61
10486322 1999
12
Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma. 61 25 54 57
9326321 1997
13
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. 57 6 61
8651278 1996
14
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. 57 6 61
7795591 1995
15
Spectrum of small length germline mutations in the RB1 gene. 57 6 61
7881418 1994
16
Molecular etiology of low-penetrance retinoblastoma in two pedigrees. 61 57 6
8099255 1993
17
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. 61 57 6
1352883 1992
18
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 6 57 61
2594029 1989
19
Mutations in the RB1 gene and their effects on transcription. 61 57 6
2601691 1989
20
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1. 61 25 6
26925970 2016
21
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay. 61 25 6
22909775 2013
22
RB1 mutations and second primary malignancies after hereditary retinoblastoma. 6 25 61
22205104 2012
23
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. 6 25 61
21505449 2011
24
Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis. 61 25 6
19390654 2009
25
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma. 61 6 25
16988938 2007
26
Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. 57 25 61
8755916 1996
27
A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma. 54 6 61
20090211 2009
28
Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression. 6 54 61
18181215 2008
29
Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes. 6 61 54
18000883 2007
30
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. 61 54 6
17299438 2007
31
Expression of motility-related protein MRP1/CD9, N-cadherin, E-cadherin, alpha-catenin and beta-catenin in retinoblastoma. 61 54 57
17316610 2007
32
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. 54 6 61
15884040 2005
33
A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity. 61 6 54
15643604 2005
34
Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. 6 61 54
15605413 2005
35
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. 61 54 6
14722923 2004
36
Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations. 54 61 6
12955724 2003
37
Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma. 57 61 54
12794701 2003
38
Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma. 6 54 61
12402348 2002
39
[Spectrum and frequencies of RB1 gene structural defects in retinoblastoma]. 54 61 6
12173465 2002
40
Structure and function of the N-cadherin/catenin complex in retinoblastoma. 61 54 57
11867572 2002
41
Molecular basis of low-penetrance retinoblastoma. 54 57 61
11709023 2001
42
Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma. 61 6 54
11668642 2001
43
Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing. 57 54 61
10631148 2000
44
Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1). 61 54 57
9245987 1997
45
Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. 6 54 61
7704558 1994
46
Cyclin A and the retinoblastoma gene product complex with a common transcription factor. 61 54 57
1830372 1991
47
Retinoblastoma in transgenic mice. 61 57 54
1689463 1990
48
Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy. 6 61
30031154 2019
49
Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations. 61 6
29568217 2018
50
De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 6 61
28193182 2017

Variations for Retinoblastoma

ClinVar genetic disease variations for Retinoblastoma:

6 (show top 50) (show all 1024)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RB1 NM_000321.2(RB1):c.2101G>A (p.Asp701Asn) SNV Pathogenic 126794 rs587778859 GRCh37: 13:49033964-49033964
GRCh38: 13:48459828-48459828
2 RB1 NM_000321.2(RB1):c.2107-1G>C SNV Pathogenic 126795 rs587778860 GRCh37: 13:49037866-49037866
GRCh38: 13:48463730-48463730
3 RB1 NM_000321.2(RB1):c.2164A>T (p.Lys722Ter) SNV Pathogenic 126796 rs587778849 GRCh37: 13:49037924-49037924
GRCh38: 13:48463788-48463788
4 RB1 NM_000321.2(RB1):c.2197C>T (p.His733Tyr) SNV Pathogenic 126797 rs587778835 GRCh37: 13:49037957-49037957
GRCh38: 13:48463821-48463821
5 RB1 NM_000321.2(RB1):c.2209G>T (p.Glu737Ter) SNV Pathogenic 126798 rs587778868 GRCh37: 13:49037969-49037969
GRCh38: 13:48463833-48463833
6 RB1 NG_009009.1:g.1662319T>A SNV Pathogenic 126799 GRCh37:
GRCh38:
7 RB1 NM_000321.2(RB1):c.2247T>A (p.Tyr749Ter) SNV Pathogenic 126801 rs587778861 GRCh37: 13:49039169-49039169
GRCh38: 13:48465033-48465033
8 RB1 NG_009009.1:g.166501C>G SNV Pathogenic 126802 GRCh37:
GRCh38:
9 RB1 NM_000321.2(RB1):c.2490-1G>A SNV Pathogenic 126804 rs587778838 GRCh37: 13:49047495-49047495
GRCh38: 13:48473359-48473359
10 RB1 NM_000321.2(RB1):c.2520+1G>A SNV Pathogenic 126805 rs587778850 GRCh37: 13:49047527-49047527
GRCh38: 13:48473391-48473391
11 RB1 NM_000321.2(RB1):c.2663+2T>C SNV Pathogenic 126807 rs587778839 GRCh37: 13:49050981-49050981
GRCh38: 13:48476845-48476845
12 RB1 NM_000321.2(RB1):c.409G>T (p.Glu137Ter) SNV Pathogenic 126810 rs121913296 GRCh37: 13:48919244-48919244
GRCh38: 13:48345108-48345108
13 RB1 NM_000321.2(RB1):c.446C>G (p.Ser149Ter) SNV Pathogenic 126812 rs587778870 GRCh37: 13:48919281-48919281
GRCh38: 13:48345145-48345145
14 RB1 NM_000321.2(RB1):c.508G>T (p.Glu170Ter) SNV Pathogenic 126814 rs587778826 GRCh37: 13:48921968-48921968
GRCh38: 13:48347832-48347832
15 RB1 NG_009009.1:g.5168-?_5303+?(2) Variation Pathogenic 126815 GRCh37:
GRCh38:
16 RB1 NM_000321.2(RB1):c.103C>T (p.Gln35Ter) SNV Pathogenic 126818 rs587778869 GRCh37: 13:48878151-48878151
GRCh38: 13:48304015-48304015
17 RB1 NM_000321.2(RB1):c.937G>T (p.Glu313Ter) SNV Pathogenic 126823 rs587778843 GRCh37: 13:48939105-48939105
GRCh38: 13:48364969-48364969
18 RB1 NM_000321.2(RB1):c.2023G>T (p.Glu675Ter) SNV Pathogenic 13088 rs137853295 GRCh37: 13:49033886-49033886
GRCh38: 13:48459750-48459750
19 RB1 NM_000321.2(RB1):c.-198G>A SNV Pathogenic 13086 rs387906521 GRCh37: 13:48877851-48877851
GRCh38: 13:48303715-48303715
20 RB1 NM_000321.2(RB1):c.-189G>T SNV Pathogenic 13085 rs387906520 GRCh37: 13:48877860-48877860
GRCh38: 13:48303724-48303724
21 RB1 NM_000321.2(RB1):c.2212-1G>A SNV Pathogenic 13084 rs587776786 GRCh37: 13:49039133-49039133
GRCh38: 13:48464997-48464997
22 RB1 NM_000321.2(RB1):c.1949_1957del (p.Phe650_Lys653delinsTer) Deletion Pathogenic 13083 rs587776785 GRCh37: 13:49030474-49030482
GRCh38: 13:48456338-48456346
23 RB1 NM_000321.2(RB1):c.1760_1769del (p.Glu587fs) Deletion Pathogenic 13082 rs587776784 GRCh37: 13:49027189-49027198
GRCh38: 13:48453053-48453062
24 RB1 NM_000321.2(RB1):c.979_1033dup (p.Thr345delinsLysLysTer) Duplication Pathogenic 13081 rs1555285429 GRCh37: 13:48941668-48941669
GRCh38: 13:48367532-48367533
25 RB1 RB1, 5-BP DEL, EX8 Deletion Pathogenic 13080 GRCh37:
GRCh38:
26 RB1 NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) SNV Pathogenic 13076 rs121913301 GRCh37: 13:48942685-48942685
GRCh38: 13:48368549-48368549
27 RB1 NM_000321.2(RB1):c.1049+1G>T SNV Pathogenic 13075 rs587776782 GRCh37: 13:48941740-48941740
GRCh38: 13:48367604-48367604
28 RB1 NM_000321.2(RB1):c.2244del (p.Glu748fs) Deletion Pathogenic 13074 rs587776781 GRCh37: 13:49039166-49039166
GRCh38: 13:48465030-48465030
29 RB1 NM_000321.2(RB1):c.1700C>T (p.Ser567Leu) SNV Pathogenic 13072 rs137853292 GRCh37: 13:49027133-49027133
GRCh38: 13:48452997-48452997
30 RB1 NM_000321.2(RB1):c.1333C>T (p.Arg445Ter) SNV Pathogenic 13071 rs3092891 GRCh37: 13:48953730-48953730
GRCh38: 13:48379594-48379594
31 RB1 NM_000321.2(RB1):c.1960+2T>C SNV Pathogenic 13070 rs587776780 GRCh37: 13:49030487-49030487
GRCh38: 13:48456351-48456351
32 RB1 NM_000321.2(RB1):c.2520+1del Deletion Pathogenic 13069 rs587776779 GRCh37: 13:49047524-49047524
GRCh38: 13:48473388-48473388
33 RB1 NM_000321.2(RB1):c.1021A>T (p.Lys341Ter) SNV Pathogenic 126825 rs587778855 GRCh37: 13:48941711-48941711
GRCh38: 13:48367575-48367575
34 RB1 NM_000321.2(RB1):c.1049+1G>A SNV Pathogenic 126827 rs587776782 GRCh37: 13:48941740-48941740
GRCh38: 13:48367604-48367604
35 RB1 NM_000321.2(RB1):c.2211G>A (p.Glu737=) SNV Pathogenic 13089 rs587776787 GRCh37: 13:49037971-49037971
GRCh38: 13:48463835-48463835
36 RB1 NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) SNV Pathogenic 13090 rs121913304 GRCh37: 13:48955550-48955550
GRCh38: 13:48381414-48381414
37 RB1 NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) SNV Pathogenic 13092 rs137853296 GRCh37: 13:49037894-49037894
GRCh38: 13:48463758-48463758
38 RB1 NM_000321.2(RB1):c.1818T>A (p.Tyr606Ter) SNV Pathogenic 13094 rs137853297 GRCh37: 13:49030343-49030343
GRCh38: 13:48456207-48456207
39 RB1 NM_000321.2(RB1):c.43_65dup (p.Pro23fs) Duplication Pathogenic 13095 rs587776790 GRCh37: 13:48878089-48878090
GRCh38: 13:48303953-48303954
40 RB1 NM_000321.2(RB1):c.2490-1398A>G SNV Pathogenic 13096 rs587776791 GRCh37: 13:49046098-49046098
GRCh38: 13:48471962-48471962
41 RB1 NM_000321.2(RB1):c.1723C>T (p.Gln575Ter) SNV Pathogenic 126784 rs587778864 GRCh37: 13:49027156-49027156
GRCh38: 13:48453020-48453020
42 RB1 NM_000321.2(RB1):c.1738G>T (p.Glu580Ter) SNV Pathogenic 126786 rs587778858 GRCh37: 13:49027171-49027171
GRCh38: 13:48453035-48453035
43 RB1 NG_009009.1:g.154289dupA Duplication Pathogenic 126787 rs1566233014 GRCh37:
GRCh38:
44 RB1 NM_000321.2(RB1):c.1909C>T (p.Gln637Ter) SNV Pathogenic 126788 rs587778833 GRCh37: 13:49030434-49030434
GRCh38: 13:48456298-48456298
45 RB1 NM_000321.2(RB1):c.1925T>A (p.Leu642Ter) SNV Pathogenic 126789 rs587778865 GRCh37: 13:49030450-49030450
GRCh38: 13:48456314-48456314
46 RB1 NM_000321.2(RB1):c.1927A>G (p.Lys643Glu) SNV Pathogenic 126790 rs587778866 GRCh37: 13:49030452-49030452
GRCh38: 13:48456316-48456316
47 RB1 NM_000321.2(RB1):c.1961-2A>T SNV Pathogenic 126792 rs587778867 GRCh37: 13:49033822-49033822
GRCh38: 13:48459686-48459686
48 RB1 NM_000321.2(RB1):c.1166T>A (p.Leu389Ter) SNV Pathogenic 126831 rs587778845 GRCh37: 13:48947579-48947579
GRCh38: 13:48373443-48373443
49 RB1 NM_000321.2(RB1):c.1216-1G>A SNV Pathogenic 126833 rs587778831 GRCh37: 13:48951053-48951053
GRCh38: 13:48376917-48376917
50 RB1 NM_000321.2(RB1):c.1332+1G>A SNV Pathogenic 126834 rs587778846 GRCh37: 13:48951171-48951171
GRCh38: 13:48377035-48377035

UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:

72 (show all 22)
# Symbol AA change Variation ID SNP ID
1 RB1 p.Glu72Gln VAR_005572
2 RB1 p.Glu137Asp VAR_005573 rs3092902
3 RB1 p.Ile185Thr VAR_005574
4 RB1 p.Arg358Gln VAR_005575 rs767011440
5 RB1 p.Met457Arg VAR_005576
6 RB1 p.His549Tyr VAR_005578 rs105071757
7 RB1 p.Ser567Leu VAR_005579 rs137853292
8 RB1 p.Ala635Pro VAR_005580
9 RB1 p.Val654Glu VAR_005581
10 RB1 p.Arg661Trp VAR_005582 rs137853294
11 RB1 p.Leu662Pro VAR_005583
12 RB1 p.His673Pro VAR_005584
13 RB1 p.Gln685Pro VAR_005585
14 RB1 p.Cys706Tyr VAR_005586
15 RB1 p.Cys712Arg VAR_005587 rs137853296
16 RB1 p.Asn803Lys VAR_005588
17 RB1 p.Arg358Gly VAR_010046
18 RB1 p.Lys447Gln VAR_010048
19 RB1 p.Lys530Arg VAR_010049
20 RB1 p.Leu657Pro VAR_010050
21 RB1 p.Arg500Gly VAR_011580
22 RB1 p.Lys616Glu VAR_011581

Cosmic variations for Retinoblastoma:

9 (show top 50) (show all 55)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM86647435 RB1 eye,retina,retinoblastoma,NS c.2106+2T>G p.? 13:48459835-48459835 18
2 COSM86634466 RB1 eye,retina,retinoblastoma,NS c.380+1G>T p.? 13:48342715-48342715 18
3 COSM86624550 RB1 eye,retina,retinoblastoma,NS c.1333C>T p.R445* 13:48379594-48379594 18
4 COSM86651352 RB1 eye,retina,retinoblastoma,NS c.1421G>A p.S474N 13:48380084-48380084 18
5 COSM86624126 RB1 eye,retina,retinoblastoma,NS c.751C>T p.R251* 13:48362847-48362847 18
6 COSM86624950 RB1 eye,retina,retinoblastoma,NS c.1183C>T p.Q395* 13:48373460-48373460 18
7 COSM86626226 RB1 eye,retina,retinoblastoma,NS c.958C>T p.R320* 13:48367512-48367512 18
8 COSM86647609 RB1 eye,retina,retinoblastoma,NS c.1960+2T>C p.? 13:48456351-48456351 18
9 COSM86625405 RB1 eye,retina,retinoblastoma,NS c.1666C>T p.R556* 13:48381414-48381414 18
10 COSM86626205 RB1 eye,retina,retinoblastoma,NS c.1363C>T p.R455* 13:48379624-48379624 18
11 COSM86628490 RB1 eye,retina,retinoblastoma,NS c.763C>T p.R255* 13:48362859-48362859 18
12 COSM86642443 RB1 eye,retina,retinoblastoma,NS c.2527G>T p.E843* 13:48476707-48476707 18
13 COSM86636835 RB1 eye,retina,retinoblastoma,NS c.2326-2A>C p.? 13:48465203-48465203 18
14 COSM86633737 RB1 eye,retina,retinoblastoma,NS c.967G>T p.E323* 13:48367521-48367521 18
15 COSM86624252 RB1 eye,retina,retinoblastoma,NS c.1215+1G>A p.? 13:48373493-48373493 18
16 COSM86631349 RB1 eye,retina,retinoblastoma,NS c.2158A>T p.K720* 13:48463782-48463782 18
17 COSM86627680 RB1 eye,retina,retinoblastoma,NS c.1166T>A p.L389* 13:48373443-48373443 18
18 COSM86638492 RB1 eye,retina,retinoblastoma,NS c.1216-2A>G p.? 13:48376916-48376916 18
19 COSM86629052 RB1 eye,retina,retinoblastoma,NS c.1961-1G>A p.? 13:48459687-48459687 18
20 COSM86640644 RB1 eye,retina,retinoblastoma,NS c.1467C>A p.C489* 13:48380210-48380210 18
21 COSM86635450 RB1 eye,retina,retinoblastoma,NS c.2053C>T p.Q685* 13:48459780-48459780 18
22 COSM86637950 RB1 eye,retina,retinoblastoma,NS c.265-2A>C p.? 13:48342597-48342597 18
23 COSM86629160 RB1 eye,retina,retinoblastoma,NS c.409G>T p.E137* 13:48345108-48345108 18
24 COSM86624395 RB1 eye,retina,retinoblastoma,NS c.2520+4A>G p.? 13:48473394-48473394 18
25 COSM86640590 RB1 eye,retina,retinoblastoma,NS c.1891C>T p.Q631* 13:48456280-48456280 18
26 COSM86656361 RB1 eye,retina,retinoblastoma,NS c.982A>C p.N328H 13:48367536-48367536 18
27 COSM86630951 RB1 eye,retina,retinoblastoma,NS c.1654C>T p.R552* 13:48381402-48381402 18
28 COSM86631559 RB1 eye,retina,retinoblastoma,NS c.1049+1G>T p.? 13:48367604-48367604 18
29 COSM86632900 RB1 eye,retina,retinoblastoma,NS c.2063T>C p.L688P 13:48459790-48459790 18
30 COSM150688162 RB1 eye,retina,retinoblastoma,NS c.160G>T p.E54* 13:48307302-48307302 18
31 COSM86649095 RB1 eye,retina,retinoblastoma,NS c.2106+1G>T p.? 13:48459834-48459834 18
32 COSM86626876 RB1 eye,retina,retinoblastoma,NS c.2206C>T p.Q736* 13:48463830-48463830 18
33 COSM86637333 RB1 eye,retina,retinoblastoma,NS c.341C>A p.S114* 13:48342675-48342675 18
34 COSM86632739 RB1 eye,retina,retinoblastoma,NS c.1960+1G>A p.? 13:48456350-48456350 18
35 COSM86630352 RB1 eye,retina,retinoblastoma,NS c.862-5T>G p.? 13:48364889-48364889 18
36 COSM86632080 RB1 eye,retina,retinoblastoma,NS c.160G>T p.E54* 13:48307302-48307302 18
37 COSM86654450 RB1 eye,retina,retinoblastoma,NS c.2152G>A p.D718N 13:48463776-48463776 18
38 COSM86640621 RB1 eye,retina,retinoblastoma,NS c.1389+1G>C p.? 13:48379651-48379651 18
39 COSM86648958 RB1 eye,retina,retinoblastoma,NS c.1494T>A p.Y498* 13:48380237-48380237 18
40 COSM87132285 PIK3CA eye,retina,retinoblastoma,NS c.1634A>G p.E545G 3:179218304-179218304 18
41 COSM148932691 PIK3CA eye,retina,retinoblastoma,NS c.1634A>G p.E545G 3:179218304-179218304 18
42 COSM91859716 KRAS eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 18
43 COSM87804005 KRAS eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 18
44 COSM87804055 KRAS eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 18
45 COSM134990158 KRAS eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 18
46 COSM134614922 KRAS eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 18
47 COSM134990112 KRAS eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 18
48 COSM134614978 KRAS eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 18
49 COSM91859752 KRAS eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 18
50 COSM97107943 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 3

Copy number variations for Retinoblastoma from CNVD:

7 (show top 50) (show all 60)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13753 1 1 27800000 Loss TP73 Retinoblastoma
2 17187 1 141465960 179620513 Gain MCL1 Retinoblastoma
3 17188 1 141465960 179620513 Gain MUC1 Retinoblastoma
4 17189 1 141465960 179620513 Gain SHC1 Retinoblastoma
5 35903 1 68700000 69500000 Copy number Retinoblastoma
6 39761 10 119100000 135374737 Copy number MGMT Retinoblastoma
7 49686 11 110000000 120700000 Loss CADM1 Retinoblastoma
8 51534 11 127676090 128202918 Losse ETS1 Retinoblastoma
9 53561 11 31000000 36400000 Copy number CD44 Retinoblastoma
10 53578 11 31000000 36400000 Gain PAX6 Retinoblastoma
11 53580 11 31000000 36400000 Gain WT1 Retinoblastoma
12 57117 11 63100000 76700000 Copy number GSTP1 Retinoblastoma
13 64482 12 128700000 132349534 Loss CHFR Retinoblastoma
14 75253 13 18400000 22200000 Copy number Retinoblastoma
15 76125 13 27800000 31100000 Loss BRCA2 Retinoblastoma
16 76619 13 33623259 78516556 Losse ARL11 Retinoblastoma
17 76620 13 33623259 78516556 Losse RB1 Retinoblastoma
18 77033 13 39500000 52200000 Copy number Retinoblastoma
19 77039 13 39500000 52200000 Deletion HTR2A Retinoblastoma
20 77041 13 39500000 52200000 Deletion NUFIP1 Retinoblastoma
21 77043 13 39500000 52200000 Deletion PCDH17 Retinoblastoma
22 77045 13 39500000 52200000 Deletion PCDH8 Retinoblastoma
23 77635 13 46200000 48900000 Copy number Retinoblastoma
24 77647 13 46200000 48900000 Loss RB1 Retinoblastoma
25 77992 13 48877883 49056026 Mutation RB1 Retinoblastoma
26 80983 14 1 106368585 Copy number Retinoblastoma
27 87295 14 72900000 78400000 Gain MLH3 Retinoblastoma
28 89229 15 14100000 18400000 Copy number Retinoblastoma
29 94758 15 70400000 73100000 Copy number Retinoblastoma
30 98276 16 16700000 27600000 Gain PYCARD Retinoblastoma
31 102221 16 50674625 57636204 Losse CYLD Retinoblastoma
32 102222 16 50674625 57636204 Losse RBL2 Retinoblastoma
33 106052 16 85600000 87200000 Loss CDH13 Retinoblastoma
34 116545 17 6800000 11200000 Loss TP53 Retinoblastoma
35 119289 18 10900000 15400000 Copy number Retinoblastoma
36 120630 18 2900000 7200000 Copy number Retinoblastoma
37 124148 19 1 63811651 Copy number Retinoblastoma
38 137753 2 15120360 17242742 Gain DDX1 Retinoblastoma
39 137754 2 15120360 17242742 Gain MYCN Retinoblastoma
40 146281 2 47600000 61100000 Copy number MSH6 Retinoblastoma
41 155742 20 57900000 62435964 Loss GATA5 Retinoblastoma
42 166071 3 1 199501827 Copy number Retinoblastoma
43 179178 3 8700000 11500000 Gain VHL Retinoblastoma
44 200479 5 55800000 115200000 Gain APC Retinoblastoma
45 204222 6 108083 58827841 Gain CCND3 Retinoblastoma
46 204223 6 108083 58827841 Gain DEK Retinoblastoma
47 204224 6 108083 58827841 Gain E2F3 Retinoblastoma
48 204225 6 108083 58827841 Gain IRF4 Retinoblastoma
49 204226 6 108083 58827841 Gain PIM1 Retinoblastoma
50 206873 6 149100000 152600000 Gain ESR1 Retinoblastoma

Expression for Retinoblastoma

Search GEO for disease gene expression data for Retinoblastoma.

Pathways for Retinoblastoma

Pathways related to Retinoblastoma according to KEGG:

36
# Name Kegg Source Accession
1 Cell cycle hsa04110